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FLASH GENE

Symbol

HNF1B

contributors: mct/npt/pgu - updated : 20-04-2010

HGNC name	HNF1 homeobox B
HGNC id	11630

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RCAD , MODY5 , DEL17Q12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in chromophobe renal cell cancer through PKHD1 expression control tumoral     --over   in clear cell carcinoma of the ovary constitutional   deletion     leading to haploinsufficiency and affecting a diverse spectrum of CAKUT (congenital anomalies of the kidney and urinary tract)

Susceptibility

to prostate cancer

Variant & Polymorphism SNP	two independent prostate cancer risk loci

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis